Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382686G>C | CA274042 | SERPINA1 | c.552C>G (p.Tyr184Ter) c.294C>G (p.Tyr98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382686G>T | CA7327473 | SERPINA1 | c.552C>A (p.Tyr184Ter) c.294C>A (p.Tyr98Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382686G>A | CA7327472 | SERPINA1 | c.552C>T (p.Tyr184=) c.294C>T (p.Tyr98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |